ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2418C>A (p.Cys806Ter)

dbSNP: rs533306015
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000220022 SCV000279416 pathogenic not provided 2019-05-16 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 11180599, 11139239)
Labcorp Genetics (formerly Invitae), Labcorp RCV000468229 SCV000545810 pathogenic Alagille syndrome due to a JAG1 point mutation 2016-04-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Truncating variants in JAG1 are known to be pathogenic (PMID: 11180599, 12497640). This particular variant was observed de novo in an individual with Alagille syndrome (PMID: 11180599). This sequence change creates a premature translational stop signal at codon 806 (p.Cys806*) of the JAG1 gene. It is expected to result in an absent or disrupted protein product.

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